Canonical Allele Identifier: CA2411007986

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721029C= , CM000684.2:g.50721029C=	GRCh38
NC_000022.10:g.51159457C= , CM000684.1:g.51159457C=	GRCh37
NC_000022.9:g.49506323C=	NCBI36
NG_008607.2:g.51675C=
NG_070230.1:g.56813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2797C=	ENSP00000489147.2:p.Arg933=
ENST00000414786.7:n.3381C=
ENST00000445220.7:c.1849C=	ENSP00000489407.2:p.Arg617=
ENST00000664402.2:c.1339C=	ENSP00000499475.1:p.Arg447=
ENST00000673971.2:c.*1795C=	ENSP00000501192.1:n.*1795C=
ENST00000445220.6:c.1849C=	ENSP00000489407.2:p.Arg617=
ENST00000262795.6:c.2797C=	ENSP00000489147.2:p.Arg933=
ENST00000664402.1:c.1339C=	ENSP00000499475.1:p.Arg447=
ENST00000673971.1:c.*1795C=	ENSP00000501192.1:n.*1795C=
ENST00000262795.5:c.3193C=	ENSP00000489147.1:p.Arg1065=
ENST00000414786.6:n.3381C=
ENST00000445220.5:c.3175C=	ENSP00000489407.1:p.Arg1059=